Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853137
rs137853137
CRB1
0.882 0.080 1 197427726 stop gained A/T snv 5.2E-05 1.3E-04
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.700 1.000 1 2019 2019